Entity Details

Primary name KRT12
Entity type gene
Source Source Link

Details

PrimaryID3859
RefseqGeneNG_008077
SymbolKRT12
Namekeratin 12
Chromosome17
Location17q21.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-19
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsK1C12_HUMAN

GO terms

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GOName
GO:0002009 morphogenesis of an epithelium
GO:0005198 structural molecule activity
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0007601 visual perception
GO:0031424 keratinization
GO:0061303 cornea development in camera-type eye
GO:0070062 extracellular exosome
GO:0070268 cornification

Diseases

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Disease IDSourceNameDescription
122100 OMIMCorneal dystrophy, Meesmann 1 (MECD1)A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD1 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions

InteractorPartnerSourcesPublicationsLink
KRT12UCHL5BioGRID21800051 details
KRT12TRAF6BioGRID27507811 details
KRT12CRKBioGRID19380743 details
KRT12CYLDBioGRID27591049 details
KRT12NUPR1BioGRID32780723 details